Variant report

Variant	rs4814102
Chromosome Location	chr20:1291928-1291929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11697322	1.00[CHB][hapmap]
rs11699494	1.00[CHB][hapmap]
rs13163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs16994239	1.00[CHB][hapmap]
rs16994549	1.00[CHB][hapmap]
rs17793560	1.00[CHB][hapmap]
rs1883933	1.00[CHB][hapmap]
rs1884390	1.00[CHB][hapmap]
rs2064645	1.00[CHB][hapmap]
rs2064646	1.00[CHB][hapmap]
rs2873522	1.00[CHB][hapmap]
rs4577347	1.00[CHB][hapmap]
rs4813115	1.00[CHB][hapmap]
rs6033534	1.00[CHB][hapmap]
rs6033554	1.00[CHB][hapmap]
rs6033660	1.00[CHB][hapmap]
rs6033871	1.00[CHB][hapmap]
rs6033896	1.00[CHB][hapmap]
rs6033914	1.00[CHB][hapmap]
rs6033935	1.00[CHB][hapmap]
rs6041689	1.00[CHB][hapmap]
rs6041716	1.00[CHB][hapmap]
rs6041717	1.00[CHB][hapmap]
rs6042506	1.00[CHB][hapmap]
rs6042550	1.00[CHB][hapmap]
rs6042568	1.00[CHB][hapmap]
rs6042574	1.00[CHB][hapmap]
rs6042578	1.00[CHB][hapmap]
rs6042585	1.00[CHB][hapmap]
rs6042588	1.00[CHB][hapmap]
rs6042676	1.00[CHB][hapmap]
rs6042689	1.00[CHB][hapmap]
rs6078575	1.00[CHB][hapmap]
rs6105031	1.00[CHB][hapmap]
rs6105101	1.00[CHB][hapmap]
rs6109437	1.00[CHB][hapmap]
rs6109511	1.00[CHB][hapmap]
rs6109522	1.00[CHB][hapmap]
rs6109740	1.00[CHB][hapmap]
rs6109784	1.00[CHB][hapmap]
rs6109984	1.00[CHB][hapmap]
rs6109989	1.00[CHB][hapmap]
rs6110189	1.00[CHB][hapmap]
rs6110193	1.00[CHB][hapmap]
rs6514337	1.00[CHB][hapmap]
rs6514364	1.00[CHB][hapmap]
rs715217	1.00[CHB][hapmap]
rs747611	1.00[CHB][hapmap]
rs8117563	1.00[CHB][hapmap]
rs8118276	1.00[CHB][hapmap]
rs912113	1.00[CHB][hapmap]
rs958839	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1067393	chr20:1254805-1302796	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv912588	chr20:1269588-1300456	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv912589	chr20:1272686-1298397	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv912590	chr20:1278770-1298397	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv912591	chr20:1283523-1296811	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	nsv912592	chr20:1283523-1297516	Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
9	nsv912593	chr20:1283523-1298397	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv912594	chr20:1283523-1299968	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv912595	chr20:1283523-1313762	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
4	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:1280600-1294000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:1281800-1294000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:1282000-1293800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr20:1282000-1293800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr20:1282000-1294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:1282000-1294400	Weak transcription	Stomach Mucosa	stomach
11	chr20:1282000-1298200	Weak transcription	A549	lung
12	chr20:1282200-1293600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr20:1282200-1294000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr20:1282200-1294000	Weak transcription	NHDF-Ad	bronchial
15	chr20:1282200-1294000	Weak transcription	NHEK	skin
16	chr20:1282200-1298600	Weak transcription	Thymus	Thymus
17	chr20:1282400-1294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr20:1283800-1301800	Weak transcription	HSMMtube	muscle
19	chr20:1284000-1294000	Weak transcription	Osteobl	bone
20	chr20:1284200-1303600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:1284400-1293200	Weak transcription	Brain Angular Gyrus	brain
22	chr20:1285200-1293800	Strong transcription	Lung	lung
23	chr20:1285200-1298200	Weak transcription	K562	blood
24	chr20:1285800-1294400	Weak transcription	Primary T cells from cord blood	blood
25	chr20:1286400-1293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:1286400-1294200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:1286600-1292400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr20:1286600-1293800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:1286600-1293800	Strong transcription	Gastric	stomach
30	chr20:1286600-1293800	Weak transcription	Pancreas	Pancrea
31	chr20:1286600-1293800	Weak transcription	Right Ventricle	heart
32	chr20:1286600-1294000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr20:1286600-1294000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr20:1286600-1294000	Weak transcription	Ovary	ovary
35	chr20:1286600-1294200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr20:1287000-1294000	Weak transcription	Fetal Muscle Leg	muscle
37	chr20:1287000-1294600	Weak transcription	Adipose Nuclei	Adipose
38	chr20:1287200-1293800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr20:1287200-1294000	Weak transcription	Aorta	Aorta
40	chr20:1287200-1294200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr20:1287400-1293800	Weak transcription	NHLF	lung
42	chr20:1287400-1294000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr20:1287400-1294000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr20:1287400-1298200	Weak transcription	Liver	Liver
45	chr20:1287800-1293600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr20:1288000-1293800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr20:1288000-1294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr20:1288200-1294000	Strong transcription	Fetal Intestine Small	intestine
49	chr20:1288600-1293600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr20:1288600-1293800	Weak transcription	Spleen	Spleen

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